ClinVar

NM_000478.6(ALPL):c.863G>A (p.Gly288Asp)

Gene:

ALPL:alkaline phosphatase, biomineralization associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.12

Genomic location:

• Chr1: 21573665 (on Assembly GRCh38)
• Chr1: 21900158 (on Assembly GRCh37)

Preferred name:

NM_000478.6(ALPL):c.863G>A (p.Gly288Asp)

HGVS:

• NC_000001.11:g.21573665G>A
• NG_008940.1:g.69301G>A
• NM_000478.6:c.863G>AMANE SELECT
• NM_001127501.4:c.698G>A
• NM_001177520.3:c.632G>A
• NM_001369803.2:c.863G>A
• NM_001369804.2:c.863G>A
• NM_001369805.2:c.863G>A
• NP_000469.3:p.Gly288Asp
• NP_001120973.2:p.Gly233Asp
• NP_001170991.1:p.Gly211Asp
• NP_001356732.1:p.Gly288Asp
• NP_001356733.1:p.Gly288Asp
• NP_001356734.1:p.Gly288Asp
• NC_000001.10:g.21900158G>A

This HGVS expression did not pass validation

Protein change:

G211D

Links:

dbSNP: rs2148184225

NCBI 1000 Genomes Browser:

rs2148184225

Molecular consequence:

• NM_000478.6:c.863G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127501.4:c.698G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177520.3:c.632G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369803.2:c.863G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369804.2:c.863G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001369805.2:c.863G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2